Differentiating Galactosemia from other diseases: Difference between revisions
Jump to navigation
Jump to search
| Line 12: | Line 12: | ||
* [[Fanconi-Bickel]] [[syndrome]] <ref name="pmid9266402">{{cite journal| author=Müller D, Santer R, Krawinkel M, Christiansen B, Schaub J| title=Fanconi-Bickel syndrome presenting in neonatal screening for galactosaemia. | journal=J Inherit Metab Dis | year= 1997 | volume= 20 | issue= 4 | pages= 607-8 | pmid=9266402 | doi=10.1023/a:1005375629820 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=9266402 }} </ref> | * [[Fanconi-Bickel]] [[syndrome]] <ref name="pmid9266402">{{cite journal| author=Müller D, Santer R, Krawinkel M, Christiansen B, Schaub J| title=Fanconi-Bickel syndrome presenting in neonatal screening for galactosaemia. | journal=J Inherit Metab Dis | year= 1997 | volume= 20 | issue= 4 | pages= 607-8 | pmid=9266402 | doi=10.1023/a:1005375629820 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=9266402 }} </ref> | ||
* [[Glucose-6-phosphate]] [[dehydrogenase]] [[deficiency]] <ref name="pmid28078493">{{cite journal| author=Stuhrman G, Perez Juanazo SJ, Crivelly K, Smith J, Andersson H, Morava E| title=False-Positive Newborn Screen Using the Beutler Spot Assay for Galactosemia in Glucose-6-Phosphate Dehydrogenase Deficiency. | journal=JIMD Rep | year= 2017 | volume= 36 | issue= | pages= 1-5 | pmid=28078493 | doi=10.1007/8904_2016_34 | pmc=5680284 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=28078493 }} </ref> | * [[Glucose-6-phosphate]] [[dehydrogenase]] [[deficiency]] <ref name="pmid28078493">{{cite journal| author=Stuhrman G, Perez Juanazo SJ, Crivelly K, Smith J, Andersson H, Morava E| title=False-Positive Newborn Screen Using the Beutler Spot Assay for Galactosemia in Glucose-6-Phosphate Dehydrogenase Deficiency. | journal=JIMD Rep | year= 2017 | volume= 36 | issue= | pages= 1-5 | pmid=28078493 | doi=10.1007/8904_2016_34 | pmc=5680284 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=28078493 }} </ref> | ||
{| class="wikitable" | {| class="wikitable" | ||
|+ Differential diagnosis of galactosemia | |+ Differential diagnosis of galactosemia | ||
| Line 18: | Line 17: | ||
! Diseases !! Clinical manifestations !! Para-clinical findings !! Gold standard !! Additional findings | ! Diseases !! Clinical manifestations !! Para-clinical findings !! Gold standard !! Additional findings | ||
|- | |- | ||
| Example || Example || Example || Example || Example | | [[Galactosemia]] || Example || Example || Example || Example | ||
|- | |||
| [[Biliary]] [[atresia]] || Example || Example || Example || Example | |||
|- | |||
| [[Fanconi]] [[Bickel]] [[syndrome]] || Example || Example || Example || Example | |||
|- | |- | ||
| | | [[Glucose-6-phosphate]] [[dehydrogenase]] [[deficiency]] || Example || Example || Example || Example | ||
|- | |- | ||
| Example || Example || Example || Example || Example | | Example || Example || Example || Example || Example | ||
| | |} | ||
==References== | ==References== | ||
Revision as of 21:47, 27 May 2022
|
Galactosemia Microchapters |
|
Diagnosis |
|---|
|
Treatment |
|
Case Studies |
|
Differentiating Galactosemia from other diseases On the Web |
|
American Roentgen Ray Society Images of Differentiating Galactosemia from other diseases |
|
Differentiating Galactosemia from other diseases in the news |
|
Risk calculators and risk factors for Differentiating Galactosemia from other diseases |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Dayana Davidis, M.D. [2]
Please help WikiDoc by adding content here. It's easy! Click here to learn about editing.
Overview
Differentiating Galactosemia from other Diseases
Galactosemia needs to differentiated from other diseases like:
| Diseases | Clinical manifestations | Para-clinical findings | Gold standard | Additional findings |
|---|---|---|---|---|
| Galactosemia | Example | Example | Example | Example |
| Biliary atresia | Example | Example | Example | Example |
| Fanconi Bickel syndrome | Example | Example | Example | Example |
| Glucose-6-phosphate dehydrogenase deficiency | Example | Example | Example | Example |
| Example | Example | Example | Example | Example |
References
- ↑ Sakura N, Mizoguchi N, Ono H, Yamaoka H, Hamakawa M (2000). "Congenital biliary atresia detected as a result of galactosemia screening by the Beutler method". Clin Chim Acta. 298 (1–2): 175–9. doi:10.1016/s0009-8981(00)00220-5. PMID 10876013.
- ↑ Müller D, Santer R, Krawinkel M, Christiansen B, Schaub J (1997). "Fanconi-Bickel syndrome presenting in neonatal screening for galactosaemia". J Inherit Metab Dis. 20 (4): 607–8. doi:10.1023/a:1005375629820. PMID 9266402.
- ↑ Stuhrman G, Perez Juanazo SJ, Crivelly K, Smith J, Andersson H, Morava E (2017). "False-Positive Newborn Screen Using the Beutler Spot Assay for Galactosemia in Glucose-6-Phosphate Dehydrogenase Deficiency". JIMD Rep. 36: 1–5. doi:10.1007/8904_2016_34. PMC 5680284. PMID 28078493.